Table 1 Phenotypes related to mutations in COL2A1 (OMIM +120140) [28]
Phenotype | Phenotype number | Inheritance |
|---|---|---|
Achondrogenesis, type II or hypochondrogenesis | 200610 | AD |
Avascular necrosis of the femoral head | 608805 | AD |
Czech dysplasia | 609162 | AD |
Epiphyseal dysplasia, multiple, with myopia and deafness | 132450 | AD |
Kniest dysplasia | 156550 | AD |
Legg-Calve-Perthes disease | 150600 | AD |
Osteoarthritis with mild chondrodysplasia | 604864 | AD |
Platyspondylic skeletal dysplasia, Torrance type | 151210 | AD |
SED congenita | 183900 | AD |
SEMD Strudwick type | 184250 | AD |
Spondyloepiphyseal dysplasia, Stanescu type | 616583 | AD |
Spondyloperipheral dysplasia | 271700 | AD |
Stickler syndrome, type I, nonsyndromic ocular | 609508 | AD |
Stickler syndrome, type I | 108300 | AD |
Vitreoretinopathy with phalangeal epiphyseal dysplasia |